Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Ontology highlight
ABSTRACT: Background
Druze individuals, like many genetically homogeneous and isolated populations, harbor recurring pathogenic variants (PV) in autosomal recessive (AR) disorders.Methods
Variant calling of whole-genome sequencing (WGS) of 40 Druze from the Human Genome Diversity Project (HGDP) was performed (HGDP-cohort). Additionally, we performed whole exome sequencing (WES) of 118 Druze individuals: 38 trios and 2 couples, representing geographically distinct clans (WES-cohort). Rates of validated PV were compared with rates in worldwide and Middle Eastern populations, from the gnomAD and dbSNP datasets.Results
Overall, 34 PVs were identified: 30 PVs in genes underlying AR disorders, 3 additional PVs were associated with autosomal dominant (AD) disorders, and 1 PV with X-linked-dominant inherited disorder in the WES cohort.Conclusions
The newly identified PVs associated with AR conditions should be considered for incorporation into prenatal-screening options offered to Druze individuals after an extension and validation of the results in a larger study.
SUBMITTER: Avnat E
PROVIDER: S-EPMC10137689 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Publications
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat Eden E Shapira Guy G Shoval Shelly S Israel-Elgali Ifat I Alkelai Anna A Shuldiner Alan R AR Gonzaga-Jauregui Claudia C Zidan Jamal J Maray Taiseer T Shomron Noam N Friedman Eitan E
Genes 20230418 4
<h4>Background</h4>Druze individuals, like many genetically homogeneous and isolated populations, harbor recurring pathogenic variants (PV) in autosomal recessive (AR) disorders.<h4>Methods</h4>Variant calling of whole-genome sequencing (WGS) of 40 Druze from the Human Genome Diversity Project (HGDP) was performed (HGDP-cohort). Additionally, we performed whole exome sequencing (WES) of 118 Druze individuals: 38 trios and 2 couples, representing geographically distinct clans (WES-cohort). Rates ...[more]
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